Incidental Mutation 'R6744:C8b'
| ID |
532770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C8b
|
| Ensembl Gene |
ENSMUSG00000029656 |
| Gene Name |
complement component 8, beta polypeptide |
| Synonyms |
4930439B20Rik |
| MMRRC Submission |
044861-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
104623514-104661745 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104631543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 53
(R53W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031663]
[ENSMUST00000065072]
|
| AlphaFold |
Q8BH35 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031663
AA Change: R53W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031663
Gene: ENSMUSG00000029656
AA Change: R53W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
TSP1
|
66 |
116 |
3.17e-7 |
SMART |
|
LDLa
|
120 |
156 |
1.78e-10 |
SMART |
|
MACPF
|
290 |
497 |
3.6e-65 |
SMART |
|
Blast:EGF
|
501 |
534 |
9e-12 |
BLAST |
|
TSP1
|
547 |
584 |
1.17e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065072
AA Change: R53W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066940
Gene: ENSMUSG00000029656
AA Change: R53W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
TSP1
|
66 |
116 |
3.17e-7 |
SMART |
|
LDLa
|
120 |
156 |
1.78e-10 |
SMART |
|
MACPF
|
224 |
431 |
3.6e-65 |
SMART |
|
Blast:EGF
|
435 |
468 |
1e-11 |
BLAST |
|
TSP1
|
481 |
518 |
1.17e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.1991 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: This gene encodes the beta subunit of complement component C8 that participates in the assembly of the complement membrane attack complex. The encoded preproprotein undergoes proteolytic processing to generate the beta subunit, which associates with the alpha and gamma subunits to form a trimeric complement component, C8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. This gene is located adjacent to the gene encoding the alpha subunit. [provided by RefSeq, Oct 2015]
PHENOTYPE: In a controlled microbial environment ("clean") laboratory, mice homozygous for an inactivating mutation of this gene are viable and fertile and exhibit no apparent abonormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
A |
10: 20,841,466 (GRCm39) |
L251H |
probably damaging |
Het |
| Alk |
A |
T |
17: 72,910,077 (GRCm39) |
S210T |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,906,281 (GRCm39) |
F246S |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,024,858 (GRCm39) |
N1749K |
probably benign |
Het |
| C87436 |
T |
A |
6: 86,423,046 (GRCm39) |
S207T |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,409,244 (GRCm39) |
V619A |
probably benign |
Het |
| Cdc73 |
G |
A |
1: 143,577,887 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
C |
A |
2: 179,489,180 (GRCm39) |
H297Q |
possibly damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,782 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,816,207 (GRCm39) |
N1328S |
probably damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,782,025 (GRCm39) |
V346E |
probably damaging |
Het |
| Ctns |
C |
T |
11: 73,076,111 (GRCm39) |
G308E |
probably damaging |
Het |
| Cxxc4 |
AGGCGGCGGCGGCGGCGGCGGCGGC |
AGGCGGCGGCGGCGGCGGCGGCGGCGGC |
3: 133,945,891 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,014,532 (GRCm39) |
I3685T |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,742,770 (GRCm39) |
H775R |
probably damaging |
Het |
| Eef1ece2 |
A |
T |
16: 20,449,116 (GRCm39) |
K165N |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,730 (GRCm39) |
V239D |
probably damaging |
Het |
| Gh |
T |
A |
11: 106,192,230 (GRCm39) |
K55* |
probably null |
Het |
| Havcr2 |
T |
G |
11: 46,345,887 (GRCm39) |
|
probably null |
Het |
| Kcnq2 |
T |
A |
2: 180,727,099 (GRCm39) |
H576L |
possibly damaging |
Het |
| Kifap3 |
A |
G |
1: 163,676,239 (GRCm39) |
N398S |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Mblac1 |
A |
G |
5: 138,192,682 (GRCm39) |
E8G |
possibly damaging |
Het |
| Mtor |
C |
T |
4: 148,543,112 (GRCm39) |
T290I |
probably benign |
Het |
| Nceh1 |
T |
C |
3: 27,295,938 (GRCm39) |
Y400H |
probably damaging |
Het |
| Nek9 |
A |
G |
12: 85,376,703 (GRCm39) |
V226A |
probably benign |
Het |
| Or10a3 |
T |
C |
7: 108,480,037 (GRCm39) |
T259A |
probably damaging |
Het |
| Or10al3 |
T |
A |
17: 38,012,336 (GRCm39) |
Y258* |
probably null |
Het |
| Or2d4 |
A |
G |
7: 106,543,741 (GRCm39) |
S156P |
probably damaging |
Het |
| Otud4 |
C |
A |
8: 80,400,407 (GRCm39) |
Y1039* |
probably null |
Het |
| Pax4 |
T |
C |
6: 28,442,396 (GRCm39) |
H331R |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,165,960 (GRCm39) |
Y2090* |
probably null |
Het |
| Ppp1r12a |
T |
A |
10: 108,066,395 (GRCm39) |
H195Q |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,140,864 (GRCm39) |
|
probably null |
Het |
| Prodh |
A |
G |
16: 17,897,064 (GRCm39) |
V23A |
probably benign |
Het |
| Psg20 |
G |
A |
7: 18,408,505 (GRCm39) |
T405I |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,093,562 (GRCm39) |
D360G |
probably benign |
Het |
| Qrfprl |
T |
A |
6: 65,418,324 (GRCm39) |
M164K |
possibly damaging |
Het |
| Rad18 |
A |
T |
6: 112,652,745 (GRCm39) |
M284K |
probably damaging |
Het |
| Rgs17 |
T |
C |
10: 5,792,567 (GRCm39) |
K60E |
possibly damaging |
Het |
| Sec31a |
G |
T |
5: 100,540,358 (GRCm39) |
Q39K |
possibly damaging |
Het |
| Slc22a22 |
G |
T |
15: 57,117,668 (GRCm39) |
T291K |
possibly damaging |
Het |
| Sult2a6 |
C |
T |
7: 13,956,470 (GRCm39) |
E264K |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,121,221 (GRCm39) |
R5896C |
probably damaging |
Het |
| Tctn1 |
A |
T |
5: 122,402,209 (GRCm39) |
V75D |
probably damaging |
Het |
| Tmem214 |
A |
G |
5: 31,031,372 (GRCm39) |
K409E |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,853,301 (GRCm39) |
Y553C |
probably damaging |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,184 (GRCm39) |
V273I |
probably benign |
Het |
|
| Other mutations in C8b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00659:C8b
|
APN |
4 |
104,658,531 (GRCm39) |
splice site |
probably benign |
|
|
IGL01145:C8b
|
APN |
4 |
104,637,777 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01768:C8b
|
APN |
4 |
104,644,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02347:C8b
|
APN |
4 |
104,644,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02488:C8b
|
APN |
4 |
104,661,278 (GRCm39) |
missense |
probably benign |
|
|
IGL02957:C8b
|
APN |
4 |
104,623,652 (GRCm39) |
missense |
probably benign |
|
|
IGL02979:C8b
|
APN |
4 |
104,631,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02995:C8b
|
APN |
4 |
104,658,525 (GRCm39) |
splice site |
probably benign |
|
|
IGL03294:C8b
|
APN |
4 |
104,637,888 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0568:C8b
|
UTSW |
4 |
104,650,577 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1015:C8b
|
UTSW |
4 |
104,644,157 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1191:C8b
|
UTSW |
4 |
104,650,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1401:C8b
|
UTSW |
4 |
104,641,679 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3824:C8b
|
UTSW |
4 |
104,640,206 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4611:C8b
|
UTSW |
4 |
104,647,841 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4756:C8b
|
UTSW |
4 |
104,644,083 (GRCm39) |
missense |
probably benign |
|
|
R4845:C8b
|
UTSW |
4 |
104,649,009 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5355:C8b
|
UTSW |
4 |
104,637,860 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5436:C8b
|
UTSW |
4 |
104,657,546 (GRCm39) |
nonsense |
probably null |
|
|
R5561:C8b
|
UTSW |
4 |
104,641,645 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5967:C8b
|
UTSW |
4 |
104,650,530 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6899:C8b
|
UTSW |
4 |
104,644,071 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6977:C8b
|
UTSW |
4 |
104,644,193 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7088:C8b
|
UTSW |
4 |
104,650,540 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7224:C8b
|
UTSW |
4 |
104,637,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7278:C8b
|
UTSW |
4 |
104,637,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8058:C8b
|
UTSW |
4 |
104,647,811 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8437:C8b
|
UTSW |
4 |
104,644,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:C8b
|
UTSW |
4 |
104,647,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:C8b
|
UTSW |
4 |
104,647,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:C8b
|
UTSW |
4 |
104,641,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:C8b
|
UTSW |
4 |
104,650,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9294:C8b
|
UTSW |
4 |
104,644,192 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9789:C8b
|
UTSW |
4 |
104,640,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACAACTTCCTTGTGCTCCTG -3'
(R):5'- TACTGTCTGAAAGCACAGAGACAG -3'
Sequencing Primer
(F):5'- GCTCTGATCTACATTAATTTGATGGG -3'
(R):5'- ACAGTCTGCATCTTAAAGGGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation